Gene: ORAI1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs118203993 in ORAI1 gene and Immune dysfunction with T-cell inactivation due to calcium entry defect 1 PMID 16147976 2005 A severe defect in CRAC Ca2+ channel activation and altered K+ channel gating in T cells from immunodeficient patients.

PMID 16582901 2006 A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function.

rs587777528 in ORAI1 gene and MYOPATHY, TUBULAR AGGREGATE, 2 PMID 24591628 2014 Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.

PMID 28058752 2017 ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

rs782472239 in ORAI1 gene and Major Depressive Disorder PMID 27777418 2017 The PHF21B gene is associated with major depression and modulates the stress response.